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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… this may be the only sign of the problem. A specific genetic test (polymerase chain reaction [PCR]) can now be … disability caused by a mutation in the FMR1 gene. … Genetic Disorders …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study is exploring the genetic factors that contribute to ADHD, with the hope of … and research studies have suggested that there may be a genetic component to this disorder. Individuals diagnosed …
Genetic Disorders
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene.
… boys are classified as having Becker muscular dystrophy. Genetic testing (looking at the body's genetic instructions) on a blood sample for changes in the … change, or de novo change and about 10 percent of new mutations are due to gonadal mosaicism. Gonadal mosaicism …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… Genetic Testing … Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease. … Genetic Variation, Genetic Testing, Genetic Counselor, …
News Release
A genetic mutation that triggers bladder cancer in dogs is identical to a mutation that is implicated in multiple human cancers.
… powerful animal model for research into human cancer. … A genetic mutation that triggers bladder cancer in dogs is … mutation occurs and whether there is an environmental or genetic cause," Dr. Parker said. Many human and canine … out new cancer detection and treatment strategies … A genetic mutation that triggers bladder cancer in dogs is …
Educational Resources
Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family.
… Genetic Counseling … Genetic counseling is the professional interaction between a … knowledge of genetics and an individual or family. … Genetic Counseling, Healthcare, Prenatal Testing, Genetic Disease, Genetic Disorder, Health Professional … …
Educational Resources
Genetic discrimination is prejudice directed against people who have or may have a genetic disease.
… Genetic Discrimination … Genetic discrimination is prejudice directed against people who have or may have a genetic disease. … Genetic Discrimination, GINA, Genetic …
Educational Resources
Genetic epidemiology is a relatively new medical discipline that seeks to understand how genetic factors interact with the environment in the context of disease in populations.
… Genetic Epidemiology … Genetic epidemiology is a relatively new medical discipline that seeks to understand how genetic factors interact with the environment in the context of disease in populations. … Genetic Epidemiology, Healthcare, Medicine, Population …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… Genetic professionals work as members of health care teams … and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. … counseling. Genetics professionals include geneticists, genetic counselors and genetics nurses. … Genetic …
Educational Resources
Genetic engineering is the process of using recombinant DNA (rDNA) technology to alter the genetic makeup of an organism.
… Genetic Engineering … Genetic engineering is the process of using recombinant DNA (rDNA) technology to alter the genetic makeup of an organism. … Genetic Engineering, Recombinant DNA, Genes, DNA Sequence … …